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在一个德国样本中,ASCT1基因的遗传变异与精神分裂症或双相情感障碍之间无关联。

No association between genetic variants at the ASCT1 gene and schizophrenia or bipolar disorder in a German sample.

作者信息

Skowronek Markus H, Georgi Alexander, Jamra Rami Abou, Schumacher Johannes, Becker Tim, Schmael Christine, Paul Torsten, Deschner Monika, Höfels Susanne, Wulff Maren, Schwarz Markus, Klopp Norman, Illig Thomas, Propping Peter, Cichon Sven, Nöthen Markus M, Schulze Thomas G, Rietschel Marcella

出版信息

Psychiatr Genet. 2006 Dec;16(6):233-4. doi: 10.1097/01.ypg.0000218621.58009.d1.

Abstract

Altered glutamatergic neurotransmission is considered a potential etiological factor of schizophrenia (SCZ) and affective disorders. The gene ASCT1 (SLC1A4) coding for a Na+-dependent neutral aminoacid transporter is a member of the glutamate transporter superfamily and is located on 2p13-14, a region showing linkage to both SCZ and bipolar disorder (BD). ASCT1 can thus be considered a candidate gene for both disorders. In a German sample, we tested for association between ASCT1 and both SCZ and BD. Allele and haplotype frequencies, however, did not differ between cases and controls. Recent findings on the associations between brainderived neurotrophic factor (BDNF) and SCZ and between G72/G30 and BD suggest that SCZ patients with a history of major depressive episodes (MDE) outside psychotic episodes and BD cases with a history of persecutory delusions constitute genetically distinct subgroups of these disorders. Thus, we hypothesized that restricting case definition to those 95 SCZ individuals with MDE and to those 107 BD patients with a history of persecutory delusions might clarify the relationship between BD, SCZ and ASCT1. However, these stratification approaches did not yield any significant association either. Allele and haplotype frequencies did not differ between cases and controls. Our results do not support an association of the ASCT1 gene with BD or SCZ in the German population.

摘要

谷氨酸能神经传递改变被认为是精神分裂症(SCZ)和情感障碍的潜在病因。编码钠依赖性中性氨基酸转运体的基因ASCT1(SLC1A4)是谷氨酸转运体超家族的成员,位于2p13 - 14,该区域显示与SCZ和双相情感障碍(BD)均存在连锁关系。因此,ASCT1可被视为这两种疾病的候选基因。在一个德国样本中,我们检测了ASCT1与SCZ和BD之间的关联性。然而,病例组和对照组之间的等位基因和单倍型频率并无差异。最近关于脑源性神经营养因子(BDNF)与SCZ之间以及G72/G30与BD之间关联的研究结果表明,有精神病发作之外的重度抑郁发作(MDE)病史的SCZ患者以及有被害妄想病史的BD患者构成了这些疾病在遗传上不同的亚组。因此,我们假设将病例定义限制为95名有MDE的SCZ个体以及107名有被害妄想病史的BD患者可能会阐明BD、SCZ与ASCT1之间的关系。然而,这些分层方法也未产生任何显著关联。病例组和对照组之间的等位基因和单倍型频率没有差异。我们的结果不支持德国人群中ASCT1基因与BD或SCZ存在关联。

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